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Terminology chevron_right Concepts chevron_right 715628009

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715628009
The component that hold information about this concept.
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)
Morm syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)

SCTID: 715628009, Primitive, Active


715628009|Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)|
  • en Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome
  • en Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)
  • en Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome
  • en Morm (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome
  • en Morm syndrome

715628009 |Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)|

<<< 34911001 |Congenital hypoplasia of penis (disorder)| +
    41799005 |Hereditary retinal dystrophy (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    248311001 |Central obesity (disorder)| +
    363290007 |Reproductive system hereditary disorder (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1359741006 |Genetic obesity disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 18911002 |Penile structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 363808001 |Body weight measure (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
Active

3303221016 - Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (en) View

3303221016
en
Synonym (core metadata concept)
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3303220015 - Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) (en) View

3303220015
en
Fully specified name (core metadata concept)
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3303223018 - Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome (en) View

3303223018
en
Synonym (core metadata concept)
Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3305363018 - MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome (en) View

3305363018
en
Synonym (core metadata concept)
MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3303222011 - MORM syndrome (en) View

3303222011
en
Synonym (core metadata concept)
MORM syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (9127798025) - 715628009 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16284817023) - 715628009 -> 1359741006 (116680003) View

116680003 |Is a (attribute)|
1359741006 |Genetic obesity disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16316824025) - 715628009 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095205025) - 715628009 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095206029) - 715628009 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096569027) - 715628009 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096570026) - 715628009 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069589020) - 715628009 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (12488233025) - 715628009 -> 281302008 (363713009) View

363713009 |Has interpretation (attribute)|
281302008 |Above reference range (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9280145025) - 715628009 -> 363808001 (363714003) View

363714003 |Interprets (attribute)|
363808001 |Body weight measure (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552345027) - 715628009 -> 55199003 (116676008) View

116676008 |Associated morphology (attribute)|
55199003 |Hypoplasia (morphologic abnormality)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6552346026) - 715628009 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6552347024) - 715628009 -> 18911002 (363698007) View

363698007 |Finding site (attribute)|
18911002 |Penile structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10518358025) - 715628009 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518359022) - 715628009 -> 18911002 (363698007) View

363698007 |Finding site (attribute)|
18911002 |Penile structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518360028) - 715628009 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518361029) - 715628009 -> 55199003 (116676008) View

116676008 |Associated morphology (attribute)|
55199003 |Hypoplasia (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552339024) - 715628009 -> 91138005 (116680003) View

116680003 |Is a (attribute)|
91138005 |Mental retardation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6552342029) - 715628009 -> 414915002 (363705008) View

363705008 |Has definitional manifestation (attribute)|
414915002 |Obese (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6552336028) - 715628009 -> 34911001 (116680003) View

116680003 |Is a (attribute)|
34911001 |Congenital hypoplasia of penis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552337021) - 715628009 -> 41799005 (116680003) View

116680003 |Is a (attribute)|
41799005 |Hereditary retinal dystrophy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552338027) - 715628009 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552340021) - 715628009 -> 248311001 (116680003) View

116680003 |Is a (attribute)|
248311001 |Central obesity (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552341020) - 715628009 -> 363290007 (116680003) View

116680003 |Is a (attribute)|
363290007 |Reproductive system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552343023) - 715628009 -> 4720007 (116676008) View

116676008 |Associated morphology (attribute)|
4720007 |Dystrophy (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6552344028) - 715628009 -> 5665001 (363698007) View

363698007 |Finding site (attribute)|
5665001 |Retinal structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

1359741006 View

1359741006
Genetic obesity disorder (disorder)
Genetic obesity disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

34911001 View

34911001
Congenital hypoplasia of penis (disorder)
Micropenis
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

41799005 View

41799005
Hereditary retinal dystrophy (disorder)
Hereditary retinal dystrophy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

248311001 View

248311001
Central obesity (disorder)
Central obesity
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363290007 View

363290007
Reproductive system hereditary disorder (disorder)
Reproductive system hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (74e6b308-3611-5bd0-95b4-a0e36a597cbc) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.8
TRUE
ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
esc